BMC Neurology最新文献

Background: Paramedian pontine reticular formation (PPRF) syndrome is characterized by horizontal gaze palsy due to lesions in the PPRF or the abducens nucleus. It is relatively rare and is typically associated with medial longitudinal fasciculus (MLF) syndrome.

Case presentation: A 53-year-old Japanese woman presented with right lateral gaze palsy and facial nerve palsy, with preserved convergence and left lateral gaze. Neurological evaluation confirmed PPRF syndrome and facial nerve palsy, with no involvement of the MLF. Brain MRI showed a lesion in the right dorsal pons, affecting the PPRF, abducens nucleus, and facial nerve. Serum testing revealed positive antinuclear and anti-AQP4 antibodies. The patient responded well to immunotherapy, with substantial clinical and radiological improvements. She was ultimately diagnosed with AQP4 antibody-positive NMOSD.

Conclusion: This is the first documented case of isolated PPRF syndrome in AQP4 antibody-positive NMOSD. The findings expand the known phenotypic spectrum of NMOSD and highlight the importance of considering NMOSD, with targeted AQP4 antibody testing, in patients presenting with isolated PPRF syndrome.

Objective: To investigate the effects of high-frequency repetitive transcranial magnetic stimulation (rTMS) over the left dorsolateral prefrontal cortex (DLPFC) in Parkinson's disease (PD) patients with mild cognitive impairment (MCI).

Methods: This was a randomized, double-blind, controlled study. We consecutively enrolled PD patients with MCI (PD-MCI) from the Second Affiliated Hospital of Soochow University from September 2021 to November 2022. The patients were randomly assigned to the active rTMS group (n = 15) and the sham rTMS group (n = 15), and received 10HZ rTMS over left DLPFC for 7 consecutive days. A battery of neuropsychological assessments was performed on participants pre-test and post-test, including attention, executive function, memory, language, and visuospatial function. A resting electroencephalograph (EEG) was recorded, and the absolute and relative power of delta, theta, low alpha, high alpha, and beta were compared between the two groups. Follow-up assessments were performed at baseline, 1 week, 4 weeks, and 3 months after rTMS treatment.

Results: Finally, 30 patients completed the follow-up. After 1 week of treatment, compared to baseline, the active group showed significant improvement on the Montreal Cognitive Assessment (MoCA) scale (P = 0.019), Auditory Verbal Fluency Test (AVLT) immediate recall (P = 0.001), AVLT long-delayed recall (P = 0.006), AVLT recognition (P = 0.015) and Boston naming (P = 0.012), while the time of Trail Making Test B (P = 0.022) was decreased. Compared to the sham group, a significant increase in the percentage change of the global relative high alpha power was shown in the active group (P = 0.012). The data showed an increase in the percentage change of the relative high alpha power in the left frontal region (P = 0.041). Moreover, the correlation analysis revealed that the MoCA score was positively correlated with the relative high alpha power (P = 0.004). There was no significant change in the sham group.

Conclusion: High-frequency rTMS over left DLPFC contributes to cognitive improvement in PD-MCI patients and increased relative high alpha power may be associated with cognitive improvement.

Trial registration: This study has been registered at Chinese Clinical Trial Registry (identifier: ChiCTR2000039557). Registered on 31 October 2020.

Objective: To validate the clinical utility of creatinine-to-cystatin C ratio (CCR) as a biomarker for monitoring nusinersen treatment response in Chinese paediatric patients receiving nusinersen monotherapy.

Methods: In this retrospective, single-center study, 33 genetically confirmed 5q-SMA patients (≤ 18 years) treated with intrathecal nusinersen for ≥ 26 months (2020.2-2025.6) were enrolled. Motor function was serially evaluated using the Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and Hammersmith Infant Neurological Exam Part 2 (HINE-2). Serum biomarkers, such as creatinine (Cr), creatine kinase (CK), and cystatin C, were measured at multiple time points. A linear mixed-effects model (adjusted for age, body mass index, SMA type, and treatment duration) was used to assess the biomarker-function associations.

Results: Ambulant patients and those with four SMN2 copies demonstrated elevated CCR and Cr levels compared to non-ambulant patients and those with three SMN2 copies at baseline. Serum CCR levels were significantly higher than the baseline at V4-V8 (10-26 months). Cr levels were significantly higher than the baseline at V8 (26 months), whereas CK and cystatin C levels remained unchanged. In the fully adjusted linear mixed-effects models, both CCR and Cr were positively associated with HFMSE and RULM scores. However, only CCR remained significant after adjustment. Cystatin C levels were inversely correlated with the HINE-2 scores.

Conclusion: CCR is a promising biomarker in paediatric SMA patients receiving nusinersen monotherapy; however, its validity and generalizability require confirmation in larger, more diverse multicenter cohorts.

Background: Polycythemia vera (PV) is a myeloproliferative neoplasm, characterized by trilineage hypercellularity, which increases the risk of thrombosis. Stiff-person syndrome (SPS) is a very rare autoimmune neuronal excitability disorder, in which antibodies disrupt the balance between excitatory and inhibitory neurotransmitters, leading to stiffness and spasms of agonist and antagonist muscles.

Case presentation: This report describes the first known case of PV and SPS occurring simultaneously in a middle-aged male patient. He presented with back stiffness and painful abdominal spasms and was found to have erythrocytosis incidentally. He had high JAK2 V617F mutation burden and was positive for anti-GAD65 antibody. Progressively intensified therapy was given until his symptoms resolved.

Conclusions: This case highlights the diagnostic and therapeutic challenges of these conditions as well as the need for further exploration of potential shared molecular mechanisms between PV and SPS.